A Escayg, M De Waard, D D Lee, D Bichet, P Wolf, T Mayer, J Johnston, R Baloh, T Sander, M H Meisler. Am J Hum Genet 2000
Times Cited: 267
Times Cited: 267
Times Cited
Times Co-cited
Similarity
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.
J C Jen, J Wan, T P Palos, B D Howard, R W Baloh. Neurology 2005
J C Jen, J Wan, T P Palos, B D Howard, R W Baloh. Neurology 2005
29
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
R A Ophoff, G M Terwindt, M N Vergouwe, R van Eijk, P J Oefner, S M Hoffman, J E Lamerdin, H W Mohrenweiser, D E Bulman, M Ferrari,[...]. Cell 1996
R A Ophoff, G M Terwindt, M N Vergouwe, R van Eijk, P J Oefner, S M Hoffman, J E Lamerdin, H W Mohrenweiser, D E Bulman, M Ferrari,[...]. Cell 1996
25
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.
Patrick Cossette, Lidong Liu, Katéri Brisebois, Haiheng Dong, Anne Lortie, Michel Vanasse, Jean-Marc Saint-Hilaire, Lionel Carmant, Andrei Verner, Wei-Yang Lu,[...]. Nat Genet 2002
Patrick Cossette, Lidong Liu, Katéri Brisebois, Haiheng Dong, Anne Lortie, Michel Vanasse, Jean-Marc Saint-Hilaire, Lionel Carmant, Andrei Verner, Wei-Yang Lu,[...]. Nat Genet 2002
22
Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
Boukje de Vries, Hafsa Mamsa, Anine H Stam, Jijun Wan, Stef L M Bakker, Kaate R J Vanmolkot, Joost Haan, Gisela M Terwindt, Elles M J Boon, Bruce D Howard,[...]. Arch Neurol 2009
Boukje de Vries, Hafsa Mamsa, Anine H Stam, Jijun Wan, Stef L M Bakker, Kaate R J Vanmolkot, Joost Haan, Gisela M Terwindt, Elles M J Boon, Bruce D Howard,[...]. Arch Neurol 2009
26
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
J C Jen, T D Graves, E J Hess, M G Hanna, R C Griggs, R W Baloh. Brain 2007
J C Jen, T D Graves, E J Hess, M G Hanna, R C Griggs, R W Baloh. Brain 2007
20
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
D L Browne, S T Gancher, J G Nutt, E R Brunt, E A Smith, P Kramer, M Litt. Nat Genet 1994
D L Browne, S T Gancher, J G Nutt, E R Brunt, E A Smith, P Kramer, M Litt. Nat Genet 1994
20
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
O Zhuchenko, J Bailey, P Bonnen, T Ashizawa, D W Stockton, C Amos, W B Dobyns, S H Subramony, H Y Zoghbi, C C Lee. Nat Genet 1997
O Zhuchenko, J Bailey, P Bonnen, T Ashizawa, D W Stockton, C Amos, W B Dobyns, S H Subramony, H Y Zoghbi, C C Lee. Nat Genet 1997
20
A new episodic ataxia syndrome with linkage to chromosome 19q13.
Kevin A Kerber, Joanna C Jen, Hane Lee, Stanley F Nelson, Robert W Baloh. Arch Neurol 2007
Kevin A Kerber, Joanna C Jen, Hane Lee, Stanley F Nelson, Robert W Baloh. Arch Neurol 2007
52
A novel locus for episodic ataxia:UBR4 the likely candidate.
Judith Conroy, Paul McGettigan, Raymond Murphy, David Webb, Sinéad M Murphy, Blathnaid McCoy, Christine Albertyn, Dara McCreary, Cara McDonagh, Orla Walsh,[...]. Eur J Hum Genet 2014
Judith Conroy, Paul McGettigan, Raymond Murphy, David Webb, Sinéad M Murphy, Blathnaid McCoy, Christine Albertyn, Dara McCreary, Cara McDonagh, Orla Walsh,[...]. Eur J Hum Genet 2014
45
Mutations in EFHC1 cause juvenile myoclonic epilepsy.
Toshimitsu Suzuki, Antonio V Delgado-Escueta, Kripamoy Aguan, Maria E Alonso, Jun Shi, Yuji Hara, Motohiro Nishida, Tomohiro Numata, Marco T Medina, Tamaki Takeuchi,[...]. Nat Genet 2004
Toshimitsu Suzuki, Antonio V Delgado-Escueta, Kripamoy Aguan, Maria E Alonso, Jun Shi, Yuji Hara, Motohiro Nishida, Tomohiro Numata, Marco T Medina, Tamaki Takeuchi,[...]. Nat Genet 2004
17
Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse.
D L Burgess, J M Jones, M H Meisler, J L Noebels. Cell 1997
D L Burgess, J M Jones, M H Meisler, J L Noebels. Cell 1997
17
Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias.
K F Damji, R R Allingham, S C Pollock, K Small, K E Lewis, J M Stajich, L H Yamaoka, J M Vance, M A Pericak-Vance. Arch Neurol 1996
K F Damji, R R Allingham, S C Pollock, K Small, K E Lewis, J M Stajich, L H Yamaoka, J M Vance, M A Pericak-Vance. Arch Neurol 1996
23
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.
Leanne M Dibbens, Hua-Jun Feng, Michaella C Richards, Louise A Harkin, Bree L Hodgson, Darren Scott, Misty Jenkins, Steven Petrou, Grant R Sutherland, Ingrid E Scheffer,[...]. Hum Mol Genet 2004
Leanne M Dibbens, Hua-Jun Feng, Michaella C Richards, Louise A Harkin, Bree L Hodgson, Darren Scott, Misty Jenkins, Steven Petrou, Grant R Sutherland, Ingrid E Scheffer,[...]. Hum Mol Genet 2004
14
Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
Tracey D Graves, Yoon-Hee Cha, Angelika F Hahn, Richard Barohn, Mohammed K Salajegheh, Robert C Griggs, Brian N Bundy, Joanna C Jen, Robert W Baloh, Michael G Hanna. Brain 2014
Tracey D Graves, Yoon-Hee Cha, Angelika F Hahn, Richard Barohn, Mohammed K Salajegheh, Robert C Griggs, Brian N Bundy, Joanna C Jen, Robert W Baloh, Michael G Hanna. Brain 2014
26
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.
A Jouvenceau, L H Eunson, A Spauschus, V Ramesh, S M Zuberi, D M Kullmann, M G Hanna. Lancet 2001
A Jouvenceau, L H Eunson, A Spauschus, V Ramesh, S M Zuberi, D M Kullmann, M G Hanna. Lancet 2001
13
A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia.
M Z Cader, J L Steckley, D A Dyment, R S McLachlan, G C Ebers. Neurology 2005
M Z Cader, J L Steckley, D A Dyment, R S McLachlan, G C Ebers. Neurology 2005
38
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.
Wei Du, Jocelyn F Bautista, Huanghe Yang, Ana Diez-Sampedro, Sun-Ah You, Lejin Wang, Prakash Kotagal, Hans O Lüders, Jingyi Shi, Jianmin Cui,[...]. Nat Genet 2005
Wei Du, Jocelyn F Bautista, Huanghe Yang, Ana Diez-Sampedro, Sun-Ah You, Lejin Wang, Prakash Kotagal, Hans O Lüders, Jingyi Shi, Jianmin Cui,[...]. Nat Genet 2005
13
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
C Jodice, E Mantuano, L Veneziano, F Trettel, G Sabbadini, L Calandriello, A Francia, M Spadaro, F Pierelli, F Salvi,[...]. Hum Mol Genet 1997
C Jodice, E Mantuano, L Veneziano, F Trettel, G Sabbadini, L Calandriello, A Francia, M Spadaro, F Pierelli, F Salvi,[...]. Hum Mol Genet 1997
12
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.
M Strupp, R Kalla, J Claassen, C Adrion, U Mansmann, T Klopstock, T Freilinger, H Neugebauer, R Spiegel, M Dichgans,[...]. Neurology 2011
M Strupp, R Kalla, J Claassen, C Adrion, U Mansmann, T Klopstock, T Freilinger, H Neugebauer, R Spiegel, M Dichgans,[...]. Neurology 2011
12
An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus.
J L Steckley, G C Ebers, M Z Cader, R S McLachlan. Neurology 2001
J L Steckley, G C Ebers, M Z Cader, R S McLachlan. Neurology 2001
25
Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy.
Abir Tadmouri, Shigeki Kiyonaka, Maud Barbado, Matthieu Rousset, Katell Fablet, Seishiro Sawamura, Eloi Bahembera, Karin Pernet-Gallay, Christophe Arnoult, Takafumi Miki,[...]. EMBO J 2012
Abir Tadmouri, Shigeki Kiyonaka, Maud Barbado, Matthieu Rousset, Katell Fablet, Seishiro Sawamura, Eloi Bahembera, Karin Pernet-Gallay, Christophe Arnoult, Takafumi Miki,[...]. EMBO J 2012
30
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.
S M Zuberi, L H Eunson, A Spauschus, R De Silva, J Tolmie, N W Wood, R C McWilliam, J B Stephenson, D M Kullmann, M G Hanna. Brain 1999
S M Zuberi, L H Eunson, A Spauschus, R De Silva, J Tolmie, N W Wood, R C McWilliam, J B Stephenson, D M Kullmann, M G Hanna. Brain 1999
11
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
Elide Mantuano, Silvia Romano, Liana Veneziano, Cinzia Gellera, Barbara Castellotti, Sara Caimi, Daniela Testa, Margherita Estienne, Giovanna Zorzi, Marianna Bugiani,[...]. J Neurol Sci 2010
Elide Mantuano, Silvia Romano, Liana Veneziano, Cinzia Gellera, Barbara Castellotti, Sara Caimi, Daniela Testa, Margherita Estienne, Giovanna Zorzi, Marianna Bugiani,[...]. J Neurol Sci 2010
22
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.
R H Wallace, D W Wang, R Singh, I E Scheffer, A L George, H A Phillips, K Saar, A Reis, E W Johnson, G R Sutherland,[...]. Nat Genet 1998
R H Wallace, D W Wang, R Singh, I E Scheffer, A L George, H A Phillips, K Saar, A Reis, E W Johnson, G R Sutherland,[...]. Nat Genet 1998
11
BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy.
Deb K Pal, Oleg V Evgrafov, Paula Tabares, Fengli Zhang, Martina Durner, David A Greenberg. Am J Hum Genet 2003
Deb K Pal, Oleg V Evgrafov, Paula Tabares, Fengli Zhang, Martina Durner, David A Greenberg. Am J Hum Genet 2003
11
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.
Y Liao, A-K Anttonen, E Liukkonen, E Gaily, S Maljevic, S Schubert, A Bellan-Koch, S Petrou, V E Ahonen, H Lerche,[...]. Neurology 2010
Y Liao, A-K Anttonen, E Liukkonen, E Gaily, S Maljevic, S Schubert, A Bellan-Koch, S Petrou, V E Ahonen, H Lerche,[...]. Neurology 2010
11
A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.
Karine Choquet, Roberta La Piana, Bernard Brais. Neurogenetics 2015
Karine Choquet, Roberta La Piana, Bernard Brais. Neurogenetics 2015
47
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.
P Imbrici, L H Eunson, T D Graves, K P Bhatia, N H Wadia, D M Kullmann, M G Hanna. Neurology 2005
P Imbrici, L H Eunson, T D Graves, K P Bhatia, N H Wadia, D M Kullmann, M G Hanna. Neurology 2005
28
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
C Denier, A Ducros, K Vahedi, A Joutel, P Thierry, A Ritz, G Castelnovo, T Deonna, P Gérard, J L Devoize,[...]. Neurology 1999
C Denier, A Ducros, K Vahedi, A Joutel, P Thierry, A Ritz, G Castelnovo, T Deonna, P Gérard, J L Devoize,[...]. Neurology 1999
10
Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine.
M Strupp, R Kalla, M Dichgans, T Freilinger, S Glasauer, T Brandt. Neurology 2004
M Strupp, R Kalla, M Dichgans, T Freilinger, S Glasauer, T Brandt. Neurology 2004
10
Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations.
T W FARMER, V M MUSTIAN. Arch Neurol 1963
T W FARMER, V M MUSTIAN. Arch Neurol 1963
12
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
Joyce van de Leemput, Jayanth Chandran, Melanie A Knight, Lynne A Holtzclaw, Sonja Scholz, Mark R Cookson, Henry Houlden, Katrina Gwinn-Hardy, Hon-Chung Fung, Xian Lin,[...]. PLoS Genet 2007
Joyce van de Leemput, Jayanth Chandran, Melanie A Knight, Lynne A Holtzclaw, Sonja Scholz, Mark R Cookson, Henry Houlden, Katrina Gwinn-Hardy, Hon-Chung Fung, Xian Lin,[...]. PLoS Genet 2007
10
Direct interaction with a nuclear protein and regulation of gene silencing by a variant of the Ca2+-channel beta 4 subunit.
H Hibino, R Pironkova, O Onwumere, M Rousset, P Charnet, A J Hudspeth, F Lesage. Proc Natl Acad Sci U S A 2003
H Hibino, R Pironkova, O Onwumere, M Rousset, P Charnet, A J Hudspeth, F Lesage. Proc Natl Acad Sci U S A 2003
11
Association between genetic variation of CACNA1H and childhood absence epilepsy.
Yucai Chen, Jianjun Lu, Hong Pan, Yuehua Zhang, Husheng Wu, Keming Xu, Xiaoyan Liu, Yuwu Jiang, Xinhua Bao, Zhijian Yao,[...]. Ann Neurol 2003
Yucai Chen, Jianjun Lu, Hong Pan, Yuehua Zhang, Husheng Wu, Keming Xu, Xiaoyan Liu, Yuwu Jiang, Xinhua Bao, Zhijian Yao,[...]. Ann Neurol 2003
10
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Alice R Gardiner, Kailash P Bhatia, Maria Stamelou, Russell C Dale, Manju A Kurian, Susanne A Schneider, G M Wali, Tim Counihan, Anthony H Schapira, Sian D Spacey,[...]. Neurology 2012
Alice R Gardiner, Kailash P Bhatia, Maria Stamelou, Russell C Dale, Manju A Kurian, Susanne A Schneider, G M Wali, Tim Counihan, Anthony H Schapira, Sian D Spacey,[...]. Neurology 2012
10
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.
Sarah E Heron, Houman Khosravani, Diego Varela, Chris Bladen, Tristiana C Williams, Michelle R Newman, Ingrid E Scheffer, Samuel F Berkovic, John C Mulley, Gerald W Zamponi. Ann Neurol 2007
Sarah E Heron, Houman Khosravani, Diego Varela, Chris Bladen, Tristiana C Williams, Michelle R Newman, Ingrid E Scheffer, Samuel F Berkovic, John C Mulley, Gerald W Zamponi. Ann Neurol 2007
10
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Steffen Syrbe, Ulrike B S Hedrich, Erik Riesch, Tania Djémié, Stephan Müller, Rikke S Møller, Bridget Maher, Laura Hernandez-Hernandez, Matthis Synofzik, Hande S Caglayan,[...]. Nat Genet 2015
Steffen Syrbe, Ulrike B S Hedrich, Erik Riesch, Tania Djémié, Stephan Müller, Rikke S Møller, Bridget Maher, Laura Hernandez-Hernandez, Matthis Synofzik, Hande S Caglayan,[...]. Nat Genet 2015
10
Hereditary myokymia and periodic ataxia.
D H VanDyke, R C Griggs, M J Murphy, M N Goldstein. J Neurol Sci 1975
D H VanDyke, R C Griggs, M J Murphy, M N Goldstein. J Neurol Sci 1975
9
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.
L H Eunson, R Rea, S M Zuberi, S Youroukos, C P Panayiotopoulos, R Liguori, P Avoni, R C McWilliam, J B Stephenson, M G Hanna,[...]. Ann Neurol 2000
L H Eunson, R Rea, S M Zuberi, S Youroukos, C P Panayiotopoulos, R Liguori, P Avoni, R C McWilliam, J B Stephenson, M G Hanna,[...]. Ann Neurol 2000
9
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Tara Klassen, Caleb Davis, Alica Goldman, Dan Burgess, Tim Chen, David Wheeler, John McPherson, Traci Bourquin, Lora Lewis, Donna Villasana,[...]. Cell 2011
Tara Klassen, Caleb Davis, Alica Goldman, Dan Burgess, Tim Chen, David Wheeler, John McPherson, Traci Bourquin, Lora Lewis, Donna Villasana,[...]. Cell 2011
9
The Ca2+ channel beta4c subunit interacts with heterochromatin protein 1 via a PXVXL binding motif.
Xingfu Xu, Yoon J Lee, Johanna B Holm, Mark D Terry, Robert E Oswald, William A Horne. J Biol Chem 2011
Xingfu Xu, Yoon J Lee, Johanna B Holm, Mark D Terry, Robert E Oswald, William A Horne. J Biol Chem 2011
40
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
Anne T Berg, Samuel F Berkovic, Martin J Brodie, Jeffrey Buchhalter, J Helen Cross, Walter van Emde Boas, Jerome Engel, Jacqueline French, Tracy A Glauser, Gary W Mathern,[...]. Epilepsia 2010
Anne T Berg, Samuel F Berkovic, Martin J Brodie, Jeffrey Buchhalter, J Helen Cross, Walter van Emde Boas, Jerome Engel, Jacqueline French, Tracy A Glauser, Gary W Mathern,[...]. Epilepsia 2010
9
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
Michael F Waters, Natali A Minassian, Giovanni Stevanin, Karla P Figueroa, John P A Bannister, Dagmar Nolte, Allan F Mock, Virgilio Gerald H Evidente, Dominic B Fee, Ulrich Müller,[...]. Nat Genet 2006
Michael F Waters, Natali A Minassian, Giovanni Stevanin, Karla P Figueroa, John P A Bannister, Dagmar Nolte, Allan F Mock, Virgilio Gerald H Evidente, Dominic B Fee, Ulrich Müller,[...]. Nat Genet 2006
9
Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2.
Jijun Wan, Hafsa Mamsa, Janine L Johnston, Elizabeth L Spriggs, Harvey S Singer, David S Zee, Alhamza R Al-Bayati, Robert W Baloh, Joanna C Jen. Front Neurol 2011
Jijun Wan, Hafsa Mamsa, Janine L Johnston, Elizabeth L Spriggs, Harvey S Singer, David S Zee, Alhamza R Al-Bayati, Robert W Baloh, Joanna C Jen. Front Neurol 2011
33
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
O K Steinlein, J C Mulley, P Propping, R H Wallace, H A Phillips, G R Sutherland, I E Scheffer, S F Berkovic. Nat Genet 1995
O K Steinlein, J C Mulley, P Propping, R H Wallace, H A Phillips, G R Sutherland, I E Scheffer, S F Berkovic. Nat Genet 1995
9
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
Krishna R Veeramah, Janelle E O'Brien, Miriam H Meisler, Xiaoyang Cheng, Sulayman D Dib-Hajj, Stephen G Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E Eichler, Linda L Restifo,[...]. Am J Hum Genet 2012
Krishna R Veeramah, Janelle E O'Brien, Miriam H Meisler, Xiaoyang Cheng, Sulayman D Dib-Hajj, Stephen G Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E Eichler, Linda L Restifo,[...]. Am J Hum Genet 2012
9
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
Wan-Jin Chen, Yu Lin, Zhi-Qi Xiong, Wei Wei, Wang Ni, Guo-He Tan, Shun-Ling Guo, Jin He, Ya-Fang Chen, Qi-Jie Zhang,[...]. Nat Genet 2011
Wan-Jin Chen, Yu Lin, Zhi-Qi Xiong, Wei Wei, Wang Ni, Guo-He Tan, Shun-Ling Guo, Jin He, Ya-Fang Chen, Qi-Jie Zhang,[...]. Nat Genet 2011
9
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.
Angelo Labate, Patrizia Tarantino, Maurizio Viri, Laura Mumoli, Monica Gagliardi, Antonino Romeo, Federico Zara, Grazia Annesi, Antonio Gambardella. Epilepsia 2012
Angelo Labate, Patrizia Tarantino, Maurizio Viri, Laura Mumoli, Monica Gagliardi, Antonino Romeo, Federico Zara, Grazia Annesi, Antonio Gambardella. Epilepsia 2012
16
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.